MCID: ATR057
MIFTS: 51

Atrioventricular Block malady

Cardiovascular diseases category

Summaries for Atrioventricular Block

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

MalaCards: Atrioventricular Block, also known as av block, is related to sick sinus syndrome and myocardial infarction. An important gene associated with Atrioventricular Block is NKX2-5 (NK2 homeobox 5), and among its related pathways are Potassium transporters inward current and HOP Signaling. The compounds flecainide and propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Wikipedia:66 An atrioventricular block (or AV block) involves the impairment of the conduction between the atria and... more...

Aliases & Classifications for Atrioventricular Block

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32LifeMap Discoveryā„¢, 9Disease Ontology, 23GTR, 46Novoseek, 63UMLS, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

atrioventricular block 32 9 23 46 63
av block 9


External Ids:

Disease Ontology9 DOID:0050820
MeSH36 D054537

Related Diseases for Atrioventricular Block

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18GeneCards, 19GeneDecks
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Diseases related to Atrioventricular Block via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1sick sinus syndrome31.0SCN5A
2myocardial infarction31.0PIK3C2A, GATA4, NPPB
3long qt syndrome30.8KCNE1, KCNE2, KCNQ1, SCN5A, KCNH2
4ventricular septal defect30.8NKX2-5
5myopathy30.6DES, LMNA, KCNH2, PIK3C2A
6cardiogenic shock30.6NPPB, PIK3C2A
7dilated cardiomyopathy30.5NPPB, DES, PIK3C2A, SCN5A, LMNA
8muscular dystrophy30.5LMNA, DES, PIK3C2A
9familial restrictive cardiomyopathy30.4NPPB, DES
10congenital heart block30.3LMNA, SCN5A, KCNE2, KCNQ1
11pericardial effusion30.2PIK3C2A
12hypokalemia30.2PIK3C2A, KCNH2
13myocarditis10.6
14mobitz type ii atrioventricular block10.6
15inferior myocardial infarction10.6
16sarcoidosis10.6
17third-degree atrioventricular block10.6
18cardiac sarcoidosis10.6
19acute myocarditis10.6
20first-degree atrioventricular block10.5
21second-degree atrioventricular block10.5
22syncope10.5
23kearns-sayre syndrome10.4
24right bundle branch block10.4
25restrictive cardiomyopathy10.4
26rheumatic fever10.3
27endocarditis10.3
28congenitally corrected transposition of the great arteries10.3
29giant cell myocarditis10.3
30transposition of the great arteries10.3
31schizoaffective disorder10.3
32endocardial fibroelastosis10.2
33aortitis10.2
34hypertrophic cardiomyopathy10.2
35acute myocardial infarction10.2
36infective endocarditis10.2
37bronchogenic cyst10.2
38left ventricular outflow tract obstruction10.2
39dysautonomia10.2
40double outlet right ventricle10.1
41dengue hemorrhagic fever10.1
42scleroderma10.1
43hemorrhagic fever10.1
44mitochondrial cardiomyopathy10.1
45aneurysm10.1
46tetrology of fallot10.1NKX2-5
47long qt syndrome 110.1KCNQ1
48neuroleptic malignant syndrome10.1PIK3C2A
49short qt syndrome 210.1KCNQ1
50holt-oram syndrome10.1TBX5

Graphical network of the top 20 diseases related to Atrioventricular Block:



Diseases related to atrioventricular block

Symptoms for Atrioventricular Block

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Drugs & Therapeutics for Atrioventricular Block

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Atrioventricular Block

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23GTR
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Genetic tests related to Atrioventricular Block:

id Genetic test Affiliating Genes
1 Atrioventricular Block23

Anatomical Context for Atrioventricular Block

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34MalaCards
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MalaCards organs/tissues related to Atrioventricular Block:

34
Heart, Brain, Lung, B cells, Retina, Tonsil

Animal Models for Atrioventricular Block or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Atrioventricular Block:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6GATA4, TBX5, NKX2-5, SCN5A, KCNH2
2MP:00053817.9KCNE1, KCNE2, KCNQ1, LMNA, GATA4
3MP:00028737.9KCNQ1, SCN5A, LMNA, NKX2-5, TBX5, GATA4
4MP:00053977.7PIK3C2A, KCNE1, KCNE2, LMNA, NKX2-5, GATA4
5MP:00107687.5DES, PIK3C2A, KCNH2, SCN5A, LMNA, NKX2-5
6MP:00053787.4PIK3C2A, KCNH2, KCNQ1, SCN5A, LMNA, NKX2-5
7MP:00053697.0NPPB, DES, KCNH2, KCNQ1, SCN5A, LMNA
8MP:00053856.5DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA
9MP:00053766.2KCNE1, KCNH2, PIK3C2A, DES, KCNE2, KCNQ1

Publications for Atrioventricular Block

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53PubMed
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Articles related to Atrioventricular Block:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Mobitz Type II Atrioventricular Block Followed by Remifentanil in a Patient with Severe Aortic Stenosis. (23662214)
2013
2
Syncope associated with documented paroxysmal atrioventricular block reproduced by adenosine 5' triphosphate injection. (24128810)
2013
3
Acquired Gerbode defect and third-degree atrioventricular block secondary to vehicular trauma in a dog. (24304841)
2013
4
Simultaneous pheochromocytoma and third-degree atrioventricular block in 2 dogs. (24102992)
2013
5
Significance of first-degree atrioventricular block in acute endocarditis. (23440164)
2013
6
Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up. (23679959)
2013
7
Epigastric pain in a 63-year-old woman. Atrial flutter with 2:1 atrioventricular block; acute inferoposterior myocardial infarction. (24350531)
2013
8
Usefulness of cardiac magnetic resonance imaging in the diagnosis of cardiac myocarditis revealed by complete atrioventricular block. (23791597)
2013
9
Cardiogenic shock accompanied by dynamic left ventricular outflow tract obstruction and myocardial bridging after transient complete atrioventricular block mimicking ST-elevation myocardial infarction: a case report. (24252345)
2013
10
Recovery of atrioventricular block following steroid therapy in patients with cardiac sarcoidosis. (24016620)
2013
11
Complete atrioventricular block in an adult with congenitally corrected transposition of the great arteries with interrupted inferior vena cava. (23798952)
2012
12
N-terminal pro-brain natriuretic peptide and electrocardiographic variables associated with increased risk of complete atrioventricular block and mortality in patients with acute inferior myocardial infarction. (23042311)
2012
13
Cardiac sarcoidosis presenting with complete atrioventricular block and sustained monomorphic ventricular tachycardia. (22977456)
2012
14
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. (22899775)
2012
15
Complete atrioventricular block and infective endocarditis in a patient with hypertrophic obstructive cardiomyopathy. (22466832)
2012
16
Seizures and syncope due to complete atrioventricular block in a patient with acute myocarditis with a normal left ventricular systolic function. (23124146)
2012
17
Cardiac leiomyoma associated with advanced atrioventricular block in a young dog. (21303738)
2011
18
Cardiac sarcoidosis complicated with atrioventricular block and wall thinning, edema and fibrosis in left ventricle: confirmed recovery to normal sinus rhythm and visualization of edema improvement by administration of predonisolone. (19540005)
2011
19
Clinical and angiographic findings of complete atrioventricular block in acute inferior myocardial infarction. (20372753)
2010
20
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. (20975234)
2010
21
Gene mutations associated with atrioventricular block complicated by long QT syndrome. (21088333)
2010
22
Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates. (20386770)
2010
23
A case of spontaneous pneumothorax presenting with high-degree atrioventricular block. (19729170)
2009
24
Compensatory hemodynamic variations for cardiovascular stabilization in complete atrioventricular block before and after pacemaker implantation]. (19404032)
2009
25
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. (19328042)
2009
26
Plasma levels of B-type natriuretic peptide in children and adolescents with high degree atrioventricular block. (18485504)
2009
27
Reversible exercise-induced advanced atrioventricular block due to cardiac sarcoidosis. (17199004)
2007
28
Case report: Concurrent congenital complete atrioventricular block, Meckel's diverticulum and cerebral palsy in a 19-year-old male. (17582526)
2007
29
Human KCNQ1 S140G mutation is associated with atrioventricular blocks. (17467630)
2007
30
Third degree atrioventricular block and sudden death secondary to acute myocarditis in a dog. (17689470)
2007
31
Acute myocarditis associated with cardiac amyloidosis manifesting as transient complete atrioventricular block and slow ventricular tachycardia. (15964086)
2006
32
Relationship between basal thinning of the interventricular septum and atrioventricular block in patients with cardiac sarcoidosis. (15881282)
2005
33
The effectiveness and cost-effectiveness of dual-chamber pacemakers compared with single-chamber pacemakers for bradycardia due to atrioventricular block or sick sinus syndrome: systematic review and economic evaluation. (16266560)
2005
34
Complete atrioventricular block in Becker muscular dystrophy. (15156213)
2004
35
Effect of cilostazol on the ventricular escape rate and neurohumoral factors in patients with third-degree atrioventricular block. (12684307)
2003
36
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. (12898247)
2003
37
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. (12204513)
2002
38
Advanced atrioventricular block in a 39-year-old man with acute rheumatic fever. (9826853)
1998
39
Effect of aminophylline in patients with atropine-resistant late advanced atrioventricular block during acute inferior myocardial infarction. (9789698)
1998
40
Recovery from complete atrioventricular block caused by idiopathic giant cell myocarditis after corticosteroid therapy. (9583449)
1998
41
Supernormal conduction in a case of Mobitz type II atrioventricular block. (9533380)
1998
42
Incidence of cardiac sarcoidosis in Japanese patients with high-degree atrioventricular block. (9327691)
1997
43
Unusual presentation of gastric dilatation. Dramatic complete atrioventricular block. (7774359)
1994
44
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
45
Functional dissociation of cellular activation as a mechanism of Mobitz type II atrioventricular block. (8462160)
1993
46
Significance of advanced atrioventricular block in acute inferior myocardial infarction--a study based on ventricular function and Holter monitoring. (2423464)
1986
47
Mechanism of atropine-resistant atrioventricular block during inferior myocardial infarction: possible role of adenosine. (3760393)
1986
48
Early and late atrioventricular block in acute inferior myocardial infarction. (6736451)
1984
49
Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. (7438396)
1981
50
Complete atrioventricular block due to giant cell myocarditis. (7393811)
1980

Variations for Atrioventricular Block

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Atrioventricular Block:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCN5ANM_000335.4(SCN5A): c.4780G> A (p.Asp1594Asn)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800
2SCN5ANM_000335.4(SCN5A): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs137854608GRCh37Chr 3, 38651267: 38651267

Expression for genes affiliated with Atrioventricular Block

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atrioventricular Block

Search GEO for disease gene expression data for Atrioventricular Block.

Pathways for genes affiliated with Atrioventricular Block

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51PathCards, 13EMD Millipore, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB
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Pathways related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNH2, KCNE1
29.6GATA4, NKX2-5
3
Show member pathways
9.3NKX2-5, LMNA, GATA4
49.3NPPB, GATA4, NKX2-5
59.1NKX2-5, TBX5, GATA4
69.1SCN5A, KCNQ1, KCNH2
79.0KCNE1, SCN5A, KCNQ1
8
Show member pathways
9.0KCNH2, KCNE1, KCNQ1
98.9GATA4, TBX5, NKX2-5, SCN5A
10
Show member pathways
8.8NKX2-5, TBX5, GATA4, NPPB
118.6KCNH2, KCNE1, KCNQ1, KCNE2
128.0KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A, LMNA

Compounds for genes affiliated with Atrioventricular Block

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52PharmGKB, 46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Atrioventricular Block according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1flecainide52 46 30 1213.3SCN5A, KCNH2
2propafenone30 46 52 1213.3KCNH2, SCN5A
3mexiletine52 46 1212.3SCN5A, KCNH2
4cisapride46 30 1212.2SCN5A, KCNH2
5metoprolol46 52 30 25 1214.2NPPB, KCNH2
6atenolol46 52 30 25 1214.0KCNH2, NPPB
7thallium4610.0PIK3C2A, NPPB
8amiodarone46 52 30 1213.0KCNH2, NPPB
9spironolactone46 62 30 52 1213.9NPPB, KCNH2
10mibg469.9PIK3C2A, NPPB
11phenytoin46 52 30 1212.8TSPO, SCN5A, KCNH2
12ptca469.8PIK3C2A, NPPB
13carvedilol46 52 30 1212.8NPPB, KCNH2
14clofilium46 3010.8KCNH2, KCNQ1
15gamma-hydroxybutyrate469.7PIK3C2A, TSPO
16bepridil46 30 1211.7KCNQ1, KCNH2
17chromanol469.7KCNQ1, KCNE1
18valine469.6TSPO, SCN5A, KCNH2
19indapamide46 1210.6KCNE1, KCNQ1
20chromanol 293b62 46 3011.6KCNQ1, KCNE1
21lysine469.6KCNH2, NPPB, SCN5A, DES
22ryanodine46 30 6211.5NPPB, GATA4, DES
23isoleucine469.5SCN5A, KCNH2, KCNQ1
24isoflurane52 46 1211.4PIK3C2A, TSPO
25katp469.4KCNH2, KCNQ1
26cocaine46 1210.3SCN5A, KCNH2, PIK3C2A, TSPO
27haloperidol46 52 30 3 1213.2NPPB, KCNH2, PIK3C2A, TSPO
28norepinephrine46 25 1211.1DES, NPPB, PIK3C2A, TSPO
29acetylcholine46 52 30 25 1213.1PIK3C2A, NPPB, TSPO, DES
30xe 991 dihydrochloride629.1KCNE2, KCNQ1, KCNH2, KCNE1
31ica 110381629.1KCNE1, KCNE2, KCNQ1, KCNH2
32jnj 303629.1KCNQ1, KCNE2, KCNE1, KCNH2
33shk-dap22629.1KCNH2, KCNE2, KCNQ1, KCNE1
34e-4031 dihydrochloride629.0KCNE2, KCNQ1, KCNE1, KCNH2
35doxorubicin46 52 1211.0DES, NPPB, GATA4, PIK3C2A
36glycogen46 2510.0DES, NPPB, PIK3C2A, GATA4
37isoproterenol46 129.9KCNH2, PIK3C2A, KCNQ1, NPPB
38progesterone46 30 62 25 1212.9GATA4, PIK3C2A, NPPB, DES
39nitric oxide46 25 1210.9KCNE1, NPPB, GATA4, NKX2-5, DES
40lipid468.8NPPB, PIK3C2A, KCNH2, KCNE1, LMNA
41retinoic acid46 259.8DES, KCNH2, LMNA, TBX5, GATA4
42creatinine468.6LMNA, DES, PIK3C2A, KCNH2, TSPO, NPPB
43epinephrine46 25 1210.5PIK3C2A, KCNQ1, NPPB
44potassium46 25 1210.3SCN5A, PIK3C2A, KCNH2, KCNE2, KCNQ1, KCNE1
45testosterone46 62 25 1211.3DES, PIK3C2A, KCNH2, NPPB, GATA4, TSPO
46steroid468.3NPPB, GATA4, TSPO, KCNH2, PIK3C2A, DES
47sodium46 259.0KCNE2, KCNQ1, NPPB, KCNE1, KCNH2, PIK3C2A
48calcium46 52 25 1210.4NPPB, KCNQ1, KCNH2, PIK3C2A, DES, SCN5A
49serine467.3KCNQ1, KCNE1, KCNH2, LMNA, DES, NPPB
50arginine467.1SCN5A, NPPB, TSPO, LMNA, KCNQ1, KCNE1

GO Terms for genes affiliated with Atrioventricular Block

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17Gene Ontology
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Cellular components related to Atrioventricular Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423838.9DES, KCNQ1, SCN5A
2lysosomeGO:0057648.9KCNE1, KCNE2, KCNQ1
3cell surfaceGO:0099868.9KCNH2, KCNE1, KCNE2, SCN5A
4voltage-gated potassium channel complexGO:0080768.6KCNQ1, KCNE2, KCNE1, KCNH2

Biological processes related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:08601010.2KCNH2, SCN5A
2ventricular cardiac muscle cell developmentGO:05501510.1NKX2-5, LMNA
3bundle of His developmentGO:00316610.1NKX2-5, TBX5
4regulation of delayed rectifier potassium channel activityGO:190225910.1KCNE2, KCNE1
5positive regulation of sodium ion transportGO:01076510.0NKX2-5, SCN5A
6membrane repolarizationGO:08600910.0KCNE2, KCNE1
7cardiac muscle cell differentiationGO:0550079.9NKX2-5, TBX5
8regulation of potassium ion transmembrane transportGO:19013799.8KCNE2, KCNH2, KCNE1
9cardiac muscle cell action potential involved in contractionGO:0860029.8SCN5A, KCNE1, KCNE2
10regulation of cardiac muscle cell contractionGO:0860049.8GATA4, SCN5A
11ventricular cardiac muscle tissue developmentGO:0032299.7GATA4, TBX5
12regulation of atrial cardiac muscle cell membrane repolarizationGO:0603729.7KCNQ1, SCN5A
13atrioventricular valve morphogenesisGO:0031819.6TBX5, GATA4
14endocardial cushion developmentGO:0031979.6TBX5, GATA4
15heart loopingGO:0019479.6GATA4, NKX2-5
16ventricular septum developmentGO:0032819.5TBX5, GATA4
17positive regulation of cardioblast differentiationGO:0518919.5TBX5, GATA4, NKX2-5
18atrial septum morphogenesisGO:0604139.5GATA4, NKX2-5, TBX5
19positive regulation of cardiac muscle cell proliferationGO:0600459.4TBX5, GATA4
20regulation of membrane repolarizationGO:0603069.4KCNQ1, KCNH2, KCNE2
21cellular response to drugGO:0356909.3KCNQ1, KCNE2, KCNH2
22membrane repolarization during cardiac muscle cell action potentialGO:0860139.3KCNQ1, KCNE1, KCNH2
23positive regulation of potassium ion transmembrane transportGO:19013819.3KCNQ1, KCNE1, KCNH2
24cardiac muscle contractionGO:0600489.2SCN5A, NKX2-5, KCNQ1, KCNH2
25regulation of heart contractionGO:0080169.2KCNQ1, DES
26membrane repolarization during action potentialGO:0860119.0KCNQ1, KCNE2, KCNE1, KCNH2
27potassium ion exportGO:0714359.0KCNH2, KCNE1, KCNQ1, KCNE2
28potassium ion transmembrane transportGO:0718059.0KCNQ1, KCNE1, KCNH2, KCNE2
29cellular response to cAMPGO:0713208.9KCNQ1, KCNE1
30male gonad developmentGO:0085848.9KCNE1, GATA4, KCNQ1
31regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603078.8KCNQ1, SCN5A, KCNE2, KCNE1, KCNH2
32ventricular cardiac muscle cell action potentialGO:0860058.7KCNE2, SCN5A, KCNQ1, KCNH2, KCNE1
33regulation of heart rate by cardiac conductionGO:0860918.7KCNE2, SCN5A, KCNQ1, KCNH2, KCNE1

Molecular functions related to Atrioventricular Block according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1inward rectifier potassium channel activityGO:00524210.0KCNH2, KCNE2
2scaffold protein bindingGO:0971109.5SCN5A, KCNQ1
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.4KCNE1, KCNQ1
4potassium channel regulator activityGO:0154599.4KCNE1, KCNE2
5RNA polymerase II regulatory region sequence-specific DNA bindingGO:0009779.3GATA4, TBX5
6ion channel bindingGO:0443259.2KCNE2, KCNQ1, SCN5A
7voltage-gated potassium channel activityGO:0052499.2KCNH2, KCNE1, KCNQ1
8transcription factor bindingGO:0081349.1NKX2-5, TBX5, GATA4
9voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022828.9KCNH2, KCNE1, KCNE2, KCNQ1
10delayed rectifier potassium channel activityGO:0052518.9KCNH2, KCNE1, KCNE2, KCNQ1
11protein homodimerization activityGO:0428038.8KCNE2, KCNH2, NKX2-5, KCNQ1
12protein bindingGO:0055156.8NKX2-5, KCNQ1, GATA4, DES, KCNH2, LMNA

Products for genes affiliated with Atrioventricular Block

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4CDC
14ExPASy
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24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
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42NDF-RT
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46Novoseek
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53PubMed
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